A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.
axon guidance defects
macrocephaly
obesity
scaffold protein
spastic paraplegia
tubulin-related disorders
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
10 Sep 2024
10 Sep 2024
Historique:
received:
21
08
2024
revised:
30
08
2024
accepted:
30
08
2024
medline:
29
9
2024
pubmed:
28
9
2024
entrez:
28
9
2024
Statut:
epublish
Résumé
Identifying novel variants in very rare disease genes can be challenging when patients exhibit a complex phenotype that expands the one described, and we provide such an example here. A few terminal truncating variants in We performed whole exome sequencing (WES) and a literature and mutation databases review. We report a young adult with SP, severe ID, strabismus, and macrocephaly exhibiting brain malformations at follow-up, partially overlapping with those described in The progression of myelination and the development of brain structures turned out to be crucial for identifying, at follow-up, the whole
Sections du résumé
BACKGROUND/OBJECTIVES
OBJECTIVE
Identifying novel variants in very rare disease genes can be challenging when patients exhibit a complex phenotype that expands the one described, and we provide such an example here. A few terminal truncating variants in
METHODS
METHODS
We performed whole exome sequencing (WES) and a literature and mutation databases review.
RESULTS
RESULTS
We report a young adult with SP, severe ID, strabismus, and macrocephaly exhibiting brain malformations at follow-up, partially overlapping with those described in
CONCLUSIONS
CONCLUSIONS
The progression of myelination and the development of brain structures turned out to be crucial for identifying, at follow-up, the whole
Identifiants
pubmed: 39336781
pii: genes15091190
doi: 10.3390/genes15091190
pii:
doi:
Types de publication
Journal Article
Case Reports
Review
Langues
eng
Sous-ensembles de citation
IM